APOB c.10054A>C ;(p.T3352P)

Variant ID: 2-21229686-T-G

NM_000384.2(APOB):c.10054A>C;(p.T3352P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: APOB: 10054A>C; Thr3352Pro
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Plos One
Ozgencil, Meryem M; Barwell, Julian J; Tischkowitz, Marc M; Izatt, Louise L; Kesterton, Ian I; Simpson, Michael M; Sharpe, Paul P; de Sepulveda, Paulo P; Voisset, Edwige E; Solomon, Ellen E
Publication Date: 2021

Variant appearance in text: APOB: T3352P
PubMed Link: 34855882
Variant Present in the following documents:
  • pone.0260852.s015.xlsx, sheet 1
View BVdb publication page



Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Plos One
Ozgencil, Meryem M; Barwell, Julian J; Tischkowitz, Marc M; Izatt, Louise L; Kesterton, Ian I; Simpson, Michael M; Sharpe, Paul P; de Sepulveda, Paulo P; Voisset, Edwige E; Solomon, Ellen E
Publication Date: 2021

Variant appearance in text: APOB: T3352P
PubMed Link: 34855882
Variant Present in the following documents:
  • pone.0260852.s015.xlsx, sheet 1
View BVdb publication page